Identification of a Novel CYP11B2 Variant in a Family with Varying Degrees of Aldosterone Synthase Deficiency

• Main Authors: Mark R. Garrelfs (Author), Tuula Rinne (Author), Jacquelien J. Hillebrand (Author), Peter Lauffer (Author), Merijn W. Bijlsma (Author), Hedi L. Claahsen-van der Grinten (Author), Nicole de Leeuw (Author), Martijn J.J. Finken (Author), Joost Rotteveel (Author), Nitash Zwaveling-Soonawala (Author), Max Nieuwdorp (Author), A.S. Paul van Trotsenburg (Author), Christiaan F. Mooij (Author)
• Format: Book
• Published: Galenos Yayincilik, 2024-03-01T00:00:00Z.
• Subjects: article
• Online Access: Connect to this object online.

Isolated aldosterone synthase deficiency is a rare autosomal recessive disorder caused by pathogenic variants in CYP11B2, resulting in impaired aldosterone synthesis. We report on a neonate with isolated aldosterone synthase deficiency caused by a novel homozygous CYP11B2 variant Chr8: NM_000498.3:...